DisGeNET - a database of gene-disease associations

List of associated variants

Cerebellar Ataxia, C0007758

Source: CURATED ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs1345176461	LOC107984638 ; IRF2BPL	0.716	0.240	14	77027231	stop gained	G/A;T	snv	4.3E-06		40
rs61755320	SPG7	0.716	0.520	16	89546737	missense variant	C/T	snv	2.9E-03	3.5E-03	36
rs1043679457	ERCC8	0.752	0.400	5	60927745	intron variant	C/A;G;T	snv			33
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1555745467	CACNA1A	0.752	0.240	19	13262771	missense variant	C/A	snv			23
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs113994095	POLG ; MIR6766	0.701	0.360	15	89327201	missense variant	C/T	snv	5.1E-04	6.7E-04	21
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			20
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			17
rs606231435	ATP1A3	0.827	0.240	19	41970539	missense variant	C/T	snv			17
rs387906799	KIF1A	0.742	0.200	2	240788118	missense variant	G/A	snv			17
rs758361736	KIF7	0.776	0.240	15	89649836	missense variant	T/G	snv	1.3E-05	1.4E-05	16
rs1554768245	SYNE1	0.807	0.160	6	152472395	frameshift variant	C/-	delins			16
rs771379232	MTHFS ; ST20-MTHFS	0.790	0.120	15	79845338	stop gained	G/A	snv	2.0E-05	3.5E-05	15
rs753635972	ST20-MTHFS ; MTHFS	0.790	0.120	15	79845388	missense variant	C/T	snv	3.2E-05	2.1E-05	15
rs181109321	TTPA	0.776	0.320	8	63065904	splice region variant	C/A;T	snv	2.0E-05		15
rs1057519429	CACNA1A	0.807	0.240	19	13235666	missense variant	C/G;T	snv			14
rs1554904159	BRSK2 ; LOC107984298	0.851	0.160	11	1442607	splice donor variant	G/A	snv			11
rs869312702	CIZ1 ; DNM1	0.827	0.160	9	128203609	missense variant	G/A	snv			10
rs782316919	SURF1	0.827	0.160	9	133351970	frameshift variant	AG/-	delins		8.4E-05	9
rs374997012	TWNK ; MRPL43	0.851	0.280	10	100989114	missense variant	C/T	snv	8.0E-06	7.0E-06	9
rs886037832	TWNK ; MRPL43	0.851	0.280	10	100988541	frameshift variant	T/-	delins			9
rs80358257	NPC1	0.827	0.280	18	23538564	missense variant	G/C	snv	1.2E-04	2.1E-04	8
rs267607116	TMEM67	0.851	0.160	8	93808861	missense variant	G/A;C	snv			8